| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC112340388, LOC112441449 +821 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058535, LOC130058536 +916 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC125146383, LOC125146384 +556 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC105371046, LOC105371050 +842 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ARHGDIG, ATP6V0C +482 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130058119, LOC130058120 +26 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130058149, LOC130058150 +925 more | Copy number gain | See cases | |
| | JMJD8, RHBDL1 +2 more (N116D +1 more) | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 16 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Spinocerebellar ataxia 48 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Deletion | not provided | |
| | | Duplication | Idiopathic generalized epilepsy +1 more | |
| | | Duplication | Epilepsy +2 more | |
| | | Copy number loss | not provided | |
| | | Deletion | Hyperaldosteronism, familial, type IV +1 more | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Duplication | Hyperaldosteronism, familial, type IV +3 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | Epilepsy +2 more | |
| | | Copy number gain | not provided | |
| | | Duplication | Idiopathic generalized epilepsy +1 more | |
| | | Deletion | Tuberous sclerosis 2 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Tuberous sclerosis 2 | |
| | | Copy number gain | Chromosome 16p13.3 duplication syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |